Editorial
Hypertrophic cardiomyopathy: Beyond left ventricular hypertrophy
Miocardiopatía hipertrófica: más allá de la hipertrofia ventricular izquierda
C. Hernández Quiles, L.M. Beltrán Romero
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Servicio de Medicina Interna, Hospital Universitario Virgen del Rocío-IBIS, Sevilla, Spain
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Rodríguez-Capitán, A. Fernández-Meseguer, P. Márquez- Camas, J.M. García-Pinilla, E. Calvo-Bonacho, T. García- Margallo, F. Cabrera-Bueno, J.J. Gómez-Doblas, M.F. Jiménez- Navarro, E. de Teresa- Galván" "autores" => array:10 [ 0 => array:2 [ "nombre" => "J." "apellidos" => "Rodríguez-Capitán" ] 1 => array:2 [ "nombre" => "A." "apellidos" => "Fernández-Meseguer" ] 2 => array:2 [ "nombre" => "P." "apellidos" => "Márquez- Camas" ] 3 => array:2 [ "nombre" => "J.M." "apellidos" => "García-Pinilla" ] 4 => array:2 [ "nombre" => "E." "apellidos" => "Calvo-Bonacho" ] 5 => array:2 [ "nombre" => "T." "apellidos" => "García- Margallo" ] 6 => array:2 [ "nombre" => "F." "apellidos" => "Cabrera-Bueno" ] 7 => array:2 [ "nombre" => "J.J." "apellidos" => "Gómez-Doblas" ] 8 => array:2 [ "nombre" => "M.F." "apellidos" => "Jiménez- Navarro" ] 9 => array:2 [ "nombre" => "E." 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Hernández Quiles, L.M. Beltrán Romero" "autores" => array:2 [ 0 => array:2 [ "nombre" => "C." "apellidos" => "Hernández Quiles" ] 1 => array:4 [ "nombre" => "L.M." "apellidos" => "Beltrán Romero" "email" => array:1 [ 0 => "luism.beltranromero@gmail.com" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "*" "identificador" => "cor0005" ] ] ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Servicio de Medicina Interna, Hospital Universitario Virgen del Rocío-IBIS, Sevilla, Spain" "identificador" => "aff0005" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Miocardiopatía hipertrófica: más allá de la hipertrofia ventricular izquierda" ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Hypertrophic cardiomyopathy (HCM) is a genetic disease in which primary hypertrophy occurs in different segments of the myocardium. Although it is estimated that most cases are asymptomatic and undiagnosed, its clinical repercussions are very relevant in other complications such as sudden death (the leading cause of sudden death in young individuals), heart failure, or stroke.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">Furthermore, despite a certain degree of controversy, recent studies show that the prognosis for these patients as a whole is worse than that of the general population.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> The high degree of variability in its phenotypic expression and causal mutations; its often silent course during lengthy phases of the disease; and the overlap of diagnostic signs with other illnesses that involve left ventricular hypertrophy, such as hypertensive cardiomyopathy, hinder its diagnosis and make it possible for it to go unnoticed unless it is actively searched for. There are no data on its prevalence in our country; data from other populations are often used. The prevalence of HCM is estimated to be approximately one case for every 500 individuals (0.2%).<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> Nevertheless, given the differences in genetic background among populations of different ancestry and as HCM is a genetically-determined illness, the extrapolation of these data is questionable.</p><p id="par0015" class="elsevierStylePara elsevierViewall">In this issue of the Revista Clínica Española, Rodríguez Capitán et al.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> present an interesting study on the prevalence of HCM in a broad sample of the working population nationwide. The authors conducted an active search for HCM during medical check-ups of workers who belonged to a mutual insurance company. The data from five Spanish provinces that represent diverse geographical regions were included: Madrid, Valladolid, Murcia, Málaga, and Asturias.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> The population analyzed was older than that of the classic studies on this disease, which are commonly conducted in young patients and mainly in athletes.<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a> A total of 13,179 individuals were included. A screening based on clinical (family medical history of sudden death and personal medical history of effort syncope) and electrocardiographic criteria was conducted. With these criteria, individuals with a greater probability of presenting with HCM were selected and invited to have an echocardiogram performed, which was later used as the reference test for the diagnosis of HCM. A total of 1008 patients were invited to have the echocardiogram performed, but only half had the test done. The prevalence of HCM found was 0.12%. Considering that the working-age population in Spain is approximately 28.7 million people,<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a> this prevalence would mean that there may be 34,400 individuals with HCM in our country.</p><p id="par0020" class="elsevierStylePara elsevierViewall">Some limitations in regard to the results of the study must be acknowledged. On the one hand, only half of the patients selected according to their medical record and electrocardiogram had the echocardiogram conducted. As the authors indicate in the article’s discussion, if one assumes that the frequency of HCM was the same in the group of patients who did not have the echocardiogram (their characteristics were similar except for the group which had the echocardiogram had a greater percentage of patients in higher positions at work), the real prevalence could be double: 0.24%. When extrapolating the results to the general population, one must also consider that the prevalence of HCM could be greater than what was observed in this study, given that patients with more severe forms of HCM are unable to work.</p><p id="par0025" class="elsevierStylePara elsevierViewall">One-third of patients who had the echocardiogram conducted were hypertensive and six of them were diagnosed with HCM as it was considered that the degree of left ventricular hypertrophy was greater than what could be attributable to hypertension (HT). The overlap between hypertensive cardiomyopathy and HCM could lead to an overestimation of HCM prevalence if cases of HCM are mistakenly diagnosed as hypertensive cardiomyopathy, a much more prevalent disease. This bias is difficult to avoid in any epidemiological study on HCM: excluding patients with HT could leave cases of HCM out of the analysis given the high prevalence of HT in the population and the frequent coexistence of both diseases,<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">8</span></a> though some studies have done this.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">9</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">In addition, it is important to consider the date the study was conducted, as criteria for the echocardiographic diagnosis of HCM were used that have been updated in the most recent recommendations. Though confirmation by means of a genetic study could have lent strength to the HCM diagnosis and helped in discerning between HCM and hypertensive cardiomyopathy, it is also true that the genetic test for this disease still leaves us with many questions, as not all mutations responsible for the disease have been identified.</p><p id="par0035" class="elsevierStylePara elsevierViewall">Lastly, the methodology used differs from other studies which use echocardiography or nuclear magnetic resonance imaging in the entire study population.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">9</span></a> This could be the cause of an underestimation of its prevalence, given that 5%–10% of subjects with HCM do not have any electrocardiographic abnormalities or a medical record suggestive of the disease.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">10</span></a> However, the approach proposed in this study of an initial screening based on a simple questionnaire and an electrocardiogram could be a much more efficient and easily applicable approach for identifying subjects with HCM from a population point of view.</p><p id="par0040" class="elsevierStylePara elsevierViewall">In conclusion, this study represents an advance in knowledge of the reality of HCM in the Spanish population and helps make this often-forgotten disease—for which an active search and a high degree of suspicion are essential for making a diagnosis—visible. In addition, it could be a good starting point for proposing population screening approaches for this disease. The expected technological development that allows for the use of large-scale massive sequencing techniques and the miniaturization, automation, and application of artificial intelligence in imaging techniques could lead to a leap forward in the precision and efficacy of diagnosing this disease. Until then, the combination of clinical and electrocardiographic screening with imaging tests and genetic studies done selectively could allow for identifying subjects with HCM and initiating therapeutic measures that may improve their prognosis.</p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Hernández Quiles C, Beltrán Romero LM. Miocardiopatía hipertrófica: más allá de la hipertrofia ventricular izquierda. Rev Clin Esp. 2021;221:343–344.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:10 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Clinical course and management of hypertrophic cardiomyopathy" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:1 [ 0 => "B.J. 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